Canonical Allele Identifier: CA7870165

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3773911C>T , CM000678.2:g.3773911C>T	GRCh38
NC_000016.9:g.3823912C>T , CM000678.1:g.3823912C>T	GRCh37
NC_000016.8:g.3763913C>T	NCBI36
NG_009873.1:g.111210G>A
NG_009873.2:g.111803G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2303G>A MANE Select	NP_004371.2:p.Arg768Gln
ENST00000262367.10:c.2303G>A MANE Select	ENSP00000262367.5:p.Arg768Gln
NM_001079846.1:c.2189G>A	NP_001073315.1:p.Arg730Gln
NM_004380.2:c.2303G>A	NP_004371.2:p.Arg768Gln
ENST00000262367.9:c.2303G>A	ENSP00000262367.5:p.Arg768Gln
ENST00000382070.7:c.2189G>A	ENSP00000371502.3:p.Arg730Gln
ENST00000570939.2:c.908G>A	ENSP00000461002.2:p.Arg303Gln
ENST00000571826.5:c.352G>A
ENST00000572134.1:c.571G>A
ENST00000575237.2:n.198G>A
XM_005255124.3:c.2258G>A	XP_005255181.1:p.Arg753Gln
XM_005255124.4:c.2258G>A	XP_005255181.1:p.Arg753Gln
XM_005255125.3:c.2303G>A	XP_005255182.1:p.Arg768Gln
XM_005255125.4:c.2303G>A	XP_005255182.1:p.Arg768Gln
XM_006720848.2:c.2303G>A	XP_006720911.1:p.Arg768Gln
XM_006720848.3:c.2303G>A	XP_006720911.1:p.Arg768Gln
XM_011522380.1:c.2249G>A	XP_011520682.1:p.Arg750Gln
XM_011522381.1:c.1550G>A	XP_011520683.1:p.Arg517Gln
XM_011522381.2:c.1550G>A	XP_011520683.1:p.Arg517Gln
XM_011522382.1:c.2303G>A	XP_011520684.1:p.Arg768Gln
XM_011522382.3:c.2303G>A	XP_011520684.1:p.Arg768Gln
XM_017022944.1:c.2303G>A	XP_016878433.1:p.Arg768Gln